Male, age 16, with aromatic l-amino acid decarboxylase deficiency caused by changes in the DDC gene
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Female, age 10, with a tall and slender build (marfanoid habitus), seizures, IgA deficiency, and GI issues (gastrointestinal dysmotility)
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Female, age 10, with global developmental delay, severe motor impairment, involuntary muscle contractions (dystonia), increase in activated immune cells (recurrent hemophagocytic lymphohistiocytosis (HLH)), and variants in the PAPSS1 gene
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Male, age 5, with absent speech, intellectual disability, and uncoordinated walking (gait ataxia) caused by a genetic change in the ATP6V1A gene
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Male, age 40, with abnormal bladder function (nocturia, polyuria, isosthenuria), acute kidney injury, and poor regulation of heart rate when moving from sitting to standing (postural orthostatic tachycardia syndrome)
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Female, age 5, with short stature, hyper-extensible joints, fine hair, anemia, and leukocytosis
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Male, age 8, with difficulty growing (failure to thrive) and GI issues (gastrointestinal dysmotility)
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Female, age 28, with Landau-Kleffner syndrome and progressive lower limb weakness caused by changes in the CHKB gene
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Female, age 5, with developmental delay, seizures, congenital cataracts, hearing loss, swallowing difficulty, atrial septal defect, repetitive behaviors (stereotypy), low blood platelet levels (thrombocytopenia), anemia, and a blueberry muffin rash identified at birth
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